ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573184375
Gene: GM2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161079.1:p.Val60Leu
CA361805927
NM_001167607.3:c.178G>C