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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:
CA2824868468
Gene: GYG2P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12272152del , CM000686.2:g.12272152del
GRCh38
NC_000024.9:g.14392856del , CM000686.1:g.14392856del
GRCh37
NC_000024.8:g.12902863del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000651802.1:n.451-30744del
ENST00000651835.1:n.320-14121del
Search 100 bp 5'
Search 100 bp 3'