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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:
CA2687989285
Gene: CFAP418
HGNC
NCBI
Linked Data
gnomAD v4:
8-95260531-TTCTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.95260533_95260536del , CM000670.2:g.95260533_95260536del
GRCh38
NC_000008.10:g.96272761_96272764del , CM000670.1:g.96272761_96272764del
GRCh37
NC_000008.9:g.96341937_96341940del
NCBI36
NG_032804.1:g.13700_13703del
Transcript Alleles
HGVS
Amino-acid change
ENST00000286688.6:c.244-3_244del
ENST00000286688.5:c.244-3_244del
NM_177965.3:c.244-3_244del
XM_005250799.2:c.583-3_583del
NM_001363260.1:c.244-3_244del
NM_177965.4:c.244-3_244del
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