ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057539559
Gene: MITF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005217099
ClinVar Variation:
3752467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Asp61Asn
CA353561019
NM_198178.3:c.181G>A