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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2574438106
Gene: ABCA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94008203del , CM000663.2:g.94008203del
GRCh38
NC_000001.10:g.94473759del , CM000663.1:g.94473759del
GRCh37
NC_000001.9:g.94246347del
NCBI36
NG_009073.1:g.117948del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000370225.4:c.5898+33del
MANE Select
ENSP00000359245.3:n.5898+33del
ENST00000370225.3:c.5898+33del
ENSP00000359245.3:n.5898+33del
ENST00000465352.1:n.314+33del
ENST00000536513.5:c.2274+33del
ENSP00000439707.2:n.2274+33del
NM_000350.2:c.5898+33del
NP_000341.2:n.5898+33del
NM_000350.3:c.5898+33del
MANE Select
NP_000341.2:n.5898+33del
Search 100 bp 5'
Search 100 bp 3'