ClinGen Allele Registry
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Canonical Allele Identifier:
PA238833
Gene: PYGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000173380
RCV000664912
RCV000828466
ClinVar Variation:
193317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005600.1:p.Arg61His
CA238832
NM_005609.4:c.182G>A