ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830433344
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415280
ClinVar Variation:
373914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Tyr102Cys
CA16043400
NM_198178.3:c.305A>G