ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096378
Gene: MMUT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000589433
RCV000666436
RCV001376629
RCV001835712
ClinVar Variation:
203844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000246.2:p.Leu328Phe
CA312762
NM_000255.4:c.982C>T