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: PA148549

Gene: POMT1 HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.3:p.Asp433Glu	CA148548 NM_007171.3:c.1299C>A CA5293591 NM_007171.3:c.1299C>G