ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA201140
Gene: MAK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194362
ClinVar RCV Id:
RCV000174716
RCV000267725
RCV000625227
RCV000762391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229886.1:p.Ile572Thr
CA201139
NM_001242957.3:c.1715T>C