ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826001758
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435312
ClinVar RCV Id:
RCV003130366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Tyr75Phe
CA381111945
NM_001164716.1:c.224A>T