ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580397519
Gene: MMACHC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1922914
ClinVar RCV Id:
RCV002634466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Tyr85Ser
CA340132032
NM_015506.3:c.254A>C