ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680140
Gene: MMACHC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
465313
ClinVar RCV Id:
RCV000555947
RCV001508862
RCV003258864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Glu217Val
CA827823
NM_015506.3:c.650A>T