ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA275944
Gene: MMACHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056321.2:p.Trp140Ter
NM_015506.3:c.419G>A
NM_015506.3:c.420G>A