Allele Registry

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.

Canonical Allele Identifier: PA2826002058

Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 1209782

ClinVar RCV Id: RCV001579116 RCV003331189

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158188.1:p.Thr400Ile	CA381175079 NM_001164716.1:c.1199C>T