ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580110356
Gene: NPC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2415229
ClinVar RCV Id:
RCV003110648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000262.2:p.Asn1101Ser
CA401791489
NM_000271.5:c.3302A>G