ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826002082
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000509394
RCV000675632
RCV001849178
RCV003330533
RCV003430725
ClinVar Variation:
194233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Ile425Val
CA240092
NM_001164716.1:c.1273A>G