ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573269670
Gene: MMACHC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1524960
ClinVar RCV Id:
RCV002032102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Pro18Leu
CA21825952
NM_015506.3:c.53C>T