ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA246850
Gene: NHS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000179569
RCV001520145
RCV002399640
ClinVar Variation:
198292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938011.1:p.Val514Met
CA246849
NM_198270.4:c.1540G>A